Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

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A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy.Facioscapulohumeral dystrophy: Activating an early embryonic transcriptional program in human skeletal muscle.

P2860

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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

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http://www.wikidata.org/entity/Q47252050

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

@en

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

@nl

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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

@en

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

@nl

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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

@en

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

@nl

P1476

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

@en

P2093

Bianca den Hamer

http://www.w3.org/2001/XMLSchema#string

Bram Slütter

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Daniela C F Salvatori

http://www.w3.org/2001/XMLSchema#string

Jessica C de Greef

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Kelsey Breslin

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Lauren Snider

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Miha Pakusch

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Rabi Tawil

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Rob F P van den Akker

http://www.w3.org/2001/XMLSchema#string

Stephen J Tapscott

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P2860

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene: Duxbl

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

Influence of Repressive Histone and DNA Methylation upon D4Z4 Transcription in Non-Myogenic Cells

Expression profiling of immature thymocytes revealed a novel homeobox gene that regulates double-negative thymocyte development

Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

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716-731

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scholarly article

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10.1093/HMG/DDX437

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P433

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P478

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Silvère M van der Maarel

Marnie E Blewitt

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2017-12-21T00:00:00Z

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P698

29281018

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haploinsufficiency

P932

5886298

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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

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P2860

P2860

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

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P1433

P1476

P2093

P2860

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P356

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P698

P921

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P1476

P2093

P2860

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